Schinzel-Giedion syndrome: A further cause of early myoclonic encephalopathy and vacuolating myelinopathy

Shuei Watanabe; Akitoshi Murayama; Kazuhiro Haginoya; Soichiro Tanaka; Noriko Togashi; Daiki Abukawa; Atsushi Sato; Masue Imaizumi; Hideto Yoshikawa; Rumiko Takayama; Keisuke Wakusawa; Satoru Kobayashi; Ikuko Sato; Akira Onuma

doi:10.1016/j.braindev.2011.03.010

Schinzel-Giedion syndrome: A further cause of early myoclonic encephalopathy and vacuolating myelinopathy

Shuei Watanabe, Akitoshi Murayama, Kazuhiro Haginoya, Soichiro Tanaka, Noriko Togashi, Daiki Abukawa, Atsushi Sato, Masue Imaizumi, Hideto Yoshikawa, Rumiko Takayama, Keisuke Wakusawa, Satoru Kobayashi, Ikuko Sato, Akira Onuma

Pediatrics

Research output: Contribution to journal › Article › peer-review

11 Citations (Scopus)

Abstract

Here, we report a male child with Schinzel-Giedion syndrome associated with intramyelinic edema detected on brain magnetic resonance imaging (MRI) and persistent suppression-burst pattern on electroencephalography (EEG) with erratic myoclonus of the extremities and face. Similar to nonketotic hyperglycinemia, Schinzel-Giedion syndrome may be recognized as another causative genetic disease of early myoclonic encephalopathy and vacuolating myelinopathy.

Original language	English
Pages (from-to)	151-155
Number of pages	5
Journal	Brain and Development
Volume	34
Issue number	2
DOIs	https://doi.org/10.1016/j.braindev.2011.03.010
Publication status	Published - 2012 Feb

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Developmental Neuroscience
Clinical Neurology

Access to Document

10.1016/j.braindev.2011.03.010

Cite this

Watanabe, S., Murayama, A., Haginoya, K., Tanaka, S., Togashi, N., Abukawa, D., Sato, A., Imaizumi, M., Yoshikawa, H., Takayama, R., Wakusawa, K., Kobayashi, S., Sato, I., & Onuma, A. (2012). Schinzel-Giedion syndrome: A further cause of early myoclonic encephalopathy and vacuolating myelinopathy. Brain and Development, 34(2), 151-155. https://doi.org/10.1016/j.braindev.2011.03.010

Watanabe, S, Murayama, A, Haginoya, K, Tanaka, S, Togashi, N, Abukawa, D, Sato, A, Imaizumi, M, Yoshikawa, H, Takayama, R, Wakusawa, K, Kobayashi, S, Sato, I & Onuma, A 2012, 'Schinzel-Giedion syndrome: A further cause of early myoclonic encephalopathy and vacuolating myelinopathy', Brain and Development, vol. 34, no. 2, pp. 151-155. https://doi.org/10.1016/j.braindev.2011.03.010

@article{70cf29b5614a40a0a41ce079ae6b4153,

title = "Schinzel-Giedion syndrome: A further cause of early myoclonic encephalopathy and vacuolating myelinopathy",

abstract = "Here, we report a male child with Schinzel-Giedion syndrome associated with intramyelinic edema detected on brain magnetic resonance imaging (MRI) and persistent suppression-burst pattern on electroencephalography (EEG) with erratic myoclonus of the extremities and face. Similar to nonketotic hyperglycinemia, Schinzel-Giedion syndrome may be recognized as another causative genetic disease of early myoclonic encephalopathy and vacuolating myelinopathy.",

author = "Shuei Watanabe and Akitoshi Murayama and Kazuhiro Haginoya and Soichiro Tanaka and Noriko Togashi and Daiki Abukawa and Atsushi Sato and Masue Imaizumi and Hideto Yoshikawa and Rumiko Takayama and Keisuke Wakusawa and Satoru Kobayashi and Ikuko Sato and Akira Onuma",

year = "2012",

month = feb,

doi = "10.1016/j.braindev.2011.03.010",

language = "English",

volume = "34",

pages = "151--155",

journal = "Brain and Development",

issn = "0387-7604",

publisher = "Elsevier",

number = "2",

}

TY - JOUR

T1 - Schinzel-Giedion syndrome

T2 - A further cause of early myoclonic encephalopathy and vacuolating myelinopathy

AU - Watanabe, Shuei

AU - Murayama, Akitoshi

AU - Haginoya, Kazuhiro

AU - Tanaka, Soichiro

AU - Togashi, Noriko

AU - Abukawa, Daiki

AU - Sato, Atsushi

AU - Imaizumi, Masue

AU - Yoshikawa, Hideto

AU - Takayama, Rumiko

AU - Wakusawa, Keisuke

AU - Kobayashi, Satoru

AU - Sato, Ikuko

AU - Onuma, Akira

PY - 2012/2

Y1 - 2012/2

N2 - Here, we report a male child with Schinzel-Giedion syndrome associated with intramyelinic edema detected on brain magnetic resonance imaging (MRI) and persistent suppression-burst pattern on electroencephalography (EEG) with erratic myoclonus of the extremities and face. Similar to nonketotic hyperglycinemia, Schinzel-Giedion syndrome may be recognized as another causative genetic disease of early myoclonic encephalopathy and vacuolating myelinopathy.

AB - Here, we report a male child with Schinzel-Giedion syndrome associated with intramyelinic edema detected on brain magnetic resonance imaging (MRI) and persistent suppression-burst pattern on electroencephalography (EEG) with erratic myoclonus of the extremities and face. Similar to nonketotic hyperglycinemia, Schinzel-Giedion syndrome may be recognized as another causative genetic disease of early myoclonic encephalopathy and vacuolating myelinopathy.

UR - http://www.scopus.com/inward/record.url?scp=84855609857&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84855609857&partnerID=8YFLogxK

U2 - 10.1016/j.braindev.2011.03.010

DO - 10.1016/j.braindev.2011.03.010

M3 - Article

C2 - 21507589

AN - SCOPUS:84855609857

VL - 34

SP - 151

EP - 155

JO - Brain and Development

JF - Brain and Development

SN - 0387-7604

IS - 2

ER -

Schinzel-Giedion syndrome: A further cause of early myoclonic encephalopathy and vacuolating myelinopathy

Abstract

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this